immunodeficiency 21

Term ID

DOID:0111947

Synonyms

• combined immunodeficiency with susceptibility to mycobacterial, viral and fungal infections
• DCML
• dendritic cell, monocyte, B and NK lymphoid deficiency
• GATA2 deficiency
• IMD21
• monocyte-B-natural killer-dendritic cell deficiency syndrome
• monocytopenia and mycobacterial infection syndrome
• monocytopenia with susceptibility to infections
• MonoMAC

Definition

A primary immunodeficiency disease characterized by profoundly decreased or absent monocytes, B lymphocytes, natural killer (NK) lymphocytes, and circulating and tissue dendritic cells with normal or nearly normal T cell numbers that has_material_basis_in heterozygous mutation in the GATA2 gene on chromosome 3q21.3. (3)

References

• GARD:10934
• MESH:D000077428
• MIM:614172
• NCI:C126349
• ORDO:228423

Ontology

Human Disease   ( DOID:0111947 )